ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10181A>G (p.Gln3394Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002347486 SCV002647856 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-21 criteria provided, single submitter clinical testing The p.Q3394R variant (also known as c.10181A>G), located in coding exon 26 of the BRCA2 gene, results from an A to G substitution at nucleotide position 10181. The glutamine at codon 3394 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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